Years of mystery symptoms - could Compound Haemochromatosis be the cause?
Posted , 7 users are following.
Hi,
I have been newly diagnosed with C282Y/H63D Compound Haemochromatosis following almost 5 years of mystery symptoms that have had all the docs baffled and some tell me to go and see a shrink... It started with unexplained interference in my endocrine system, unexplained feelings of doom followed by a rush of adrenaline. I had upper left quadrant aching, aching in the left side of my face, jaw and head. Neck pain, back pain, restless legs, red/itchy palms, abdominal pain, shortness of breath, chest pain, mild cramping in my upper left chest and my arms, pain in my arms and hands... The list is extensive. I have had multiple cardiac investigations come back normal including a CT Angiogram and MRI Perfusion scan. My ECGs are normal, BP is normal yet the pain referral pattern I experience is identical to angina. The difference being it almost always occurs at rest and is not linked to exertion. I have however got a reduced exercise tolerance and pushing too hard results in strange sensations and brief rapid flutters in my chest although this is rare and has never been caught on a Holter monitor. I have been told by 4 different cardiology depts that I definitively do not have heart disease before being discharged. I have to agree with them as the chances of nothing being detected despite having every possible test are slim to none!
This had docs looking elsewhere and so I have been tested for different cancers, endocrine disorders, pheochromocytoma, thyroid problems, diabetes, and sarcoid problems. All negative.
Throughout the years my ferritin has ranged from 600 to 850 but this has been dismissed as my TS is normal, fluctuating between 20% and 45%. After changing my GP he decided to send me to gastroenterology and I was tested for HH. It came back positive and the doctor I am under has said that the TS can be unreliable as compound haemochromatosis can present differently. I just had a MRI of my liver (not had results yet) and I am scheduled for a ultrasound and fibroscan. He has also suggested I start venesections to reduce my ferritin.
I am interested to see if there is anybody else out there that has experienced anything similar. From my own research I have found that apparently CH is not as bad as C282Y HH and it seems odd that my symptoms have been so horrendous yet there are others out there with ferritin in the 1000s that do not have symptoms like mine.
I am 40 years old, male. I drink no more than 2 or 3 pints a week and I do not take iron supplements and never have. There are a lot of unexplained illnesses in my immediate family that I am wondering if they are related. My brother has a type of what they thought was fibrosis growing from his liver down past his kidneys into his prostate. They now think it could be lymphoma but they are not certain and he is on the waiting list for a biopsy at Christies. My mum has suffered from avascular necrosis resulting in the loss of her left shoulder. She now has osteoporosis and her spine is fractured in multiple places. She also suffers with problems with her adrenal system. My family are going to be tested as there is a chance all this is related to HH according to my Gastroenterologist.
Any experiences shared much appreciated.
0 likes, 10 replies
patrick001 dean30360
Posted
gday Dean, i have the compound as you and experienced alot of the same symptoms you outlined. My levels were around 850 also. I had the fibroscan got a score of 6.1 which is normal. the Dr told me that rarely does this condition go over 1000 and the chances of the liver being damaged is low. The venesections slowly started lowing my levels then kt dropped super quickly. i dropped to 58 but am now back around 120. you will feel much better after they get that blood out. I am 49 years old and have been a heavy drinker most of my life. but have cut back a lot since finding out I have HH. Hope this helps. Patrick
dean30360 patrick001
Posted
Hi Patrick
Thanks for your reply it is much appreciated. It is a relief to know I am not alone in the symptoms I suffer from, as up to now I have been reluctant to believe all this is down to the compound. I will push to get the venesections started and hopefully see an improvement.
Thanks again. Dean
sheryl37154 dean30360
Edited
My son is compound after being tested at age 22 with a ferritin of about 772. I had been diagnosed first with homozygous C28Y after my hips broke up from avascular necrosis and after suffering symptoms for 9 years undiagnosed. In the last year, I had constant pain in my left side chest, like I had a swollen and heavy heart. 24 hr holter also did not reveal anything. As my son also had H63D, his father was tested to find he has homozygous H63D.
My son had not become really good after having Eppstein Barr syndrome (glandular fever) at age 17 and that affects all the organs that GH affects anyway.
I met a man in France who had symptoms similar to yours and was told to go to a shrink, which he complied, anything to get well, but when his joints became quite painful, he knew it was not in his head. Geez, all it takes is a simple Iron Studies test, then if abnormal results, a follow up genetic test. Yes, the TS% is an important indicator, as well as your MCV (if it is greater than 94) in your 'complete blood tests'. Why are they so afraid to do a genetic test just in case. I wish we could sue them for being in denial as my dr was. My issues were before google so I could not even find out the clues myself, but the existence of haemchromatosis has be known since sometime late in the 1800s.
It is still difficult to get drs educated about this disorder. So now you have finally crossed the bridge to enable treatment. Just keep having those venesections (start weekly for about 4 weeks - move to fortnightly, then monthly and so on. You must get your ferritin level down to at least 50. I keep having 3 monthly venesections to get my TS% down even though my ferritin is in the 20s. It is not harming me, but allowing it to increase brings on that chest pain, arrythmia, etc. Because of the delayed diagnosis, the fatigue never really left me, or only for a short time (for 13 days) after vx. My year long chest pain before diagnosis gradually dissipated with each venesection.
Maybe not everything will go away for you, especially if you have been undiagnosed for many years. However, having the less aggressive compound heterozygous genes, should go a long way to doing this. My husband (H63D) whose ferritin was about 550 at age 55 quickly dropped, and he eventually has not needed another vx. However, he did get Hodgkin's Lymphoma which is another story. Our son, since moving out of home and marrying has not been compliant with his venesections, and now has diabetes, and mood problems.
The research teams for GH I really like to follow are the French teams in Rennes. They also recommend Vit E and CoQ10 to repair the mitochondria damaged by iron in the cells. Calcium is the only proven product that reduces the uptake of iron, so have some with meals. Do not reduce your intake of food containing iron (like red meat and greens) - this is a furphy - as doing so could make you anaemic and unable to have vx at times. A vx removes the equivalent of iron from 50 steaks, and you are not likely to eat 50 steaks between vx. Tea and coffee, a small glass of wine with meals/dinner are said to reduce the uptake of iron, but high Vitamin C products like OJ should not be drunk with meals. However, antioxidents are important to us and I can't do without my 500 mg of Vit C lozenge last thing at night, or else I will forever be getting colds or worse.
Anything you want to question, e.g. heart and iron overload, google those words rather than heart and haemochromatosis. You will get more information. Read only medical research, not blog stuff or someone trying to sell you something (e.g. tumeric products - which again is another furphy).
Contact your country's haemochromatosis organisation, ask for products to help create awareness so that less people are left to suffer this metabolic disorder unnecessarily.
Good luck with it all
dean30360 sheryl37154
Posted
Hi Sheryl,
Thank you for the very well written and comprehensive reply I appreciate the time taken to read my post and offer the benefit of your experience. I know exactly what you mean about the left sided heavy feeling in your chest. Mine makes me feel like I cant get a satisfying breath at times and is frustrating. It seems to ease with mild to moderate exertion though as opposed to worsen as you would expect with angina. However if I push too hard I end up with short bursts of arrythmia .I have passed the exercise stress test twice with no abnormalities found which was frustrating, sods law that my symptoms didn't surface at the time of the tests. It is a very odd and confusing condition. My symptoms seem to come and go in waves. Mild for a few months and then horrendous for a few months. The huge variation in symptoms with different people must add to the difficulty in getting a diagnosis. Like I said there has been a delay for me as my TS is in the normal range (at 42% currently) I guess all these iron studies are good indicators but only the genetic test will confirm if you have HH along with your symptoms. I have read of people with high TS but normal ferritin. Mine is the other way around! I am assured by my current doc that compound can present differently. Its alarming that you too have suffered avascular necrosis as has my mother, and my brother is being investigated for lymphoma as was your husband. I do hope the outcome was positive for your husband as I know first hand how devastating cancer can be after recently losing a close family member to it.
The comment regarding your son with the diabetes is interesting as my tests keep coming back borderline for diabetes and I guess that it is only a matter of time before it gets me too unless I get started on the venesections now. I do already take coq10 after reading about the benefits and its ability to heal damage. I have spent a long time convinced that I have Cardiac Syndrome X (Microvascular Angina) although my symptoms didn't quite fit perfectly. I read that COQ10 is good for people on statins too and it prevents the muscle aching associated with statin use. I was started on statins after my tryglycerides went through the roof (5.7).
I will look into all your suggestions, your reply has lots of useful information. Thanks again for your time. Dean
sheryl37154 dean30360
Posted
Hi Dean
Sorry for delay - I have been travelling on Haemochromatosis business. Not to learn anything new but mostly for administration and recruiting purposes for volunteers for the haemochromatosis org that I am associated with.
Yes, my husband did survive Hodgkin's Lymphoma, not without damage by the chemo and radium therapy. If your brother is found to have a lymphoma. he will need support and daily attention by hopefully, a loved one. One that cares about his intake of sustenance and giving him moral support while he is being transfused with the chemo. Someone who can take note of what he is being given and who will insist on his returning to his oncologist and speaking up when he feels something is wrong. E.g., nearing the end of his radium therapy, he most likely will have a dose of thrush in his throat, esophagus and mouth which will make it too painful to swallow anything. I burnt out 3 blenders in an attempt to give my husband nutritious and tasty food during all of his treatment.
Any issues caused by Haemochromatosis need the usual treatments as if it is not connected with Haemochromatosis, as long as you keep up your vx. I sought out a cardiologist whom I hoped knew something about haemochromatosis, feeling that damage had been done (e.g. iron is actually microscopic particles of sharp edged mineral which cuts its way through our organs, and then on vx, cuts its way out again, causing scar tissue). While he ordered an MRI of the heart for me after I had been well de-ironed, he gave the best advice of all: iron accumulation in the heart cannot be cut out, biopsied out, bled out, so just keep having those venesections. It kind of put things in perspective for me, knowing that I cannot do much more.
You don't always have to stay under 50 for your ferritin - as long as you get there in the first place. Then you can settle at where it feels best for you. I keep a spreadsheet of my blood test results and note how I am feeling during that period.
I had the best results for body pain and fatigue when I started taking 100mg of aspirin everyday. It was initially for thinning my blood as my veins started going on strike and refusing to give up my blood. I am very motivated about getting that stuff out of me, as it is better than having chemo.
However, I had a side effect of feeling lighter, less body pain, walking faster, and although my days are still short, I could do more in the day. It felt like my thinner blood was flushing the old iron out of my cells - layman's terms of course.
At some time, it was discovered I was not absorbing Vit D even though I live in the tropics and took Vit D tablets. My dr put me onto a practitioner's brand of Vit D3 forte drops and my levels increased. My husband was not absorbing Vit B12, and went through 2+ yrs of severe depression which could not be alleviated by anti-depressants. In fact, he had a bad reaction to them. Finally, his dr had a brain-wave and thought of B12 (blood tested him - very low) and started him on weekly injections - he started to come home humming and said hello to the neighbour after 2 years of ignoring him. He was a different man. Deficiency in B12 causes neurological problems.
After reading the instructions within the packet, I read that B12 can increase blood volume. So now, prior to my vx, I have a B12 injection even though my blood levels are within normal range. My gp is very supportive of that, and believes it is necessary for some people, vx or not.
Haemochromatosis also messes with our hormones - my husband's testosterone plummeted, particularly after radium which hit his pituitary gland (and his thyroid). I read that you were sent to an endrocrinologist, so he should have tested all your pituitary gland hormones and provided treatment where necessary. Insufficient testosterone causes, among other things, weakness, fatigue, memory loss, depression, etc.
I had a quick search regarding TS% and compound heterozygosity but found the following which might reflect some of your symptoms.
Google the words Iron Study is a Weak Indicator in Symptomatic C282Y/ H63D Compound Heterozygotes.
Keep us informed of your progress. It is a learning curve for all of us.
Entwicklung34 sheryl37154
Posted
A truly helpful message - thank you ⭐
Searcher77 dean30360
Posted
I am C282Y/H36D but the gastro doesn't reckon I have HH because my ferritin is only around the 200 mark. TS is around 55%. I have had many of the symptoms you have stated but have given up running to doctors about it. I have had a mix of strange blood results but hemoglobin and serum iron have always been normal. I do appear to have a high MCH/MCHC value which can be caused by a B12 deficiency but no amount of vitamin supplements alter the result. I figured it's why i went grey early. I also appear to have relative lymphocytosis and a lower than normal platelet count. Red Blood cells and white bloods cells sit on the low end of normal. As I said I have given up looking answers for this. I get a full blood count once a year to keep an eye on things. Has anyone any shoulder pain from this?
sheryl37154 Searcher77
Posted
You might have the genes but are not loading iron. You could volunteer to donate blood but DO NOT mention the H word or they will turn you away. Also do not mention anything that you think you might have, let the results speak for themselves, if necessary.
MCH is an indicator for genetic haemochromatosis as well - but once again, at this point in time, your ferritin levels say you are not loading iron. B12 tablets do not work - ask for B12 injections from your dr. Keep monitoring your Iron Studies (yearly) in case your metabolism changes.
patrick001 dean30360
Posted
Hi, i do have shoulder issues, i would'nt call mine a pain, more of an annoying discomfort on my right shoulder like a little throbs but not there all the time. I also started going grey in my early 30,s. Even though my levels are low at the moment it still gives me some issues.
Searcher77 dean30360
Posted
i was discovering grey hairs at 17 but there were loads by 30. I have managed to keep my hair which I can't complain about. I have always had this right shoulder weekness when at the gym but it's now become an intense pain if I move a certain way. It's like having your arm electrocuted and the pain shoots down the entire arm and fingers. Again only if I move my arm up very high or towards my back. It renders almost to the ground when the pain hits.